CV Ruxandra Bachmann-Gagescu

ZORA Publication List

Publications

• Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., et al, Bachmann-Gagescu, R., & Rauch, A. (2022). Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype (No. 22279724; MedRxiv). https://doi.org/10.1101/2022.09.29.22279724
• Rusterholz, T. D. S., Hofmann, C., & Bachmann-Gagescu, R. (2022). Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome Frontiers in Genetics, 13, 939527. https://doi.org/10.3389/fgene.2022.939527
• Mytlis, A., Kumar, V., Qiu, T., Deis, R., Hart, N., Levy, K., Masek, M., Shawahny, A., Ahmad, A., Eitan, H., Nather, F., Adar-Levor, S., Birnbaum, R. Y., Elia, N., Bachmann-Gagescu, R., Roy, S., & Elkouby, Y. M. (2022). Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene cilium Science, 376, 6599. https://doi.org/10.1126/science.abh3104
• Cardenas-Rodriguez, M., Austin-Tse, C., Bergboer, J. G. M., Molinari, E., Sugano, Y., Bachmann-Gagescu, R., Sayer, J. A., & Drummond, I. A. (2021). Genetic compensation for cilia defects in cep290/NPHP6 mutants by upregulation of cilia-associated small GTPases Journal of Cell Science, 134, jcs258568. https://doi.org/10.1242/jcs.258568
• Masek, M., Etard, C., Hofmann, C., Hülsmeier, A. J., Zang, J., Takamiya, M., Gesemann, M., Neuhauss, S., Hornemann, T., Strähle, U., & Bachmann-Gagescu, R. (2021). The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition (No. 452166; ArXiv.Org). https://doi.org/10.1101/2021.07.13.452166
• Mytils, A., Kumar, V., Tao, Q., Deis, R., Levy, K., Masek, M., Eitan, H., Nather, F., Shawahny, A., Bachmann-Gagescu, R., Roy, S., & Elkouby, Y. M. (2021). Ciliary control of meiotic chromosomal pairing mechanics and germ cell morphogenesis (No. 430249; BioRxiv). https://doi.org/10.1101/2021.02.08.430249
• Latour, B. L., Van De Weghe, J. C., Rusterholz, T. D. S., Letteboer, S. J. F., Gomez, A., Shaheen, R., Gesemann, M., Karamzade, A., Asadollahi, M., Barroso-Gil, M., Chitre, M., Grout, M. E., van Reeuwijk, J., van Beersum, S. E. C., Miller, C. V., Dempsey, J. C., Morsy, H., Bamshad, M. J., Nickerson, D. A., … Doherty, D. (2020). Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome Journal of Clinical Investigation, 130, 4423–4439. https://doi.org/10.1172/jci131656
• Latour, B. L., Van De Weghe, J. C., Rusterholz, T. D. S., Letteboer, S. J. F., Gomez, A., Shaheen, R., Gesemann, M., Karamzade, A., Asadollahi, M., Barroso-Gil, M., Chitre, M., Grout, M. E., van Reeuwijk, J., van Beersum, S. E. C., Miller, C. V., Dempsey, J. C., Morsy, H., Bamshad, M. J., Nickerson, D. A., … Doherty, D. (2020). Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome Journal of Clinical Investigation, 130, 4423–4439. https://doi.org/10.1172/jci131656
• Ansar, M., Ebstein, F., Özkoç, H., Paracha, S. A., Iwaszkiewicz, J., Gesemann, M., Zoete, V., Ranza, E., Santoni, F. A., Sarwar, M. T., Ahmed, J., Krüger, E., Bachmann-Gagescu, R., & Antonarakis, S. E. (2020). Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature Human Molecular Genetics, 29, 1132–1143. https://doi.org/10.1093/hmg/ddaa032
• Bachmann-Gagescu, R., Dempsey, J. C., Bulgheroni, S., Chen, M. L., D’Arrigo, S., Glass, I. A., Heller, T., Héon, E., Hildebrandt, F., Joshi, N., Knutzen, D., Kroes, H. Y., Mack, S. H., Nuovo, S., Parisi, M. A., Snow, J., Summers, A. C., Symons, J. M., Zein, W. M., … Doherty, D. (2020). Healthcare recommendations for Joubert syndrome American Journal of Medical Genetics. Part A, 182, 229–249. https://doi.org/10.1002/ajmg.a.61399
• Begemann, A., Acuña, M. A., Zweier, M., Vincent, M., Steindl, K., Bachmann-Gagescu, R., Hackenberg, A., Abela, L., Plecko, B., Kroell-Seger, J., Baumer, A., Yamakawa, K., Inoue, Y., Asadollahi, R., Sticht, H., Zeilhofer, H. U., & Rauch, A. (2019). Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes Molecular Medicine, 25, 6. https://doi.org/10.1186/s10020-019-0073-6
• Latour, B. L., Van De Weghe, J. C., Rusterholz, T. D. S., Letteboer, S. J. F., Gomez, A., Shaheen, R., Gesemann, M., Grout, M. E., van Reeuwijk, J., van Beersum, S. E. C., Miller, C. V., Dempsey, J. C., Morsy, H., Bamshad, M. J., Nickerson, D. A., Neuhauss, S. C. F., Boldt, K., Ueffing, M., Alkuraya, F. S., … Doherty, D. (2019). ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability (No. 817213; BioRxiv). https://doi.org/10.1101/817213
• Boonsawat, P., Joset, P., Steindl, K., Oneda, B., Gogoll, L., Azzarello-Burri, S., Sheth, F., Datar, C., Verma, I. C., Puri, R. D., Zollino, M., Bachmann-Gagescu, R., Niedrist, D., Papik, M., Figueiro-Silva, J., Masood, R., Zweier, M., Kraemer, D., Lincoln, S., … Rauch, A. (2019). Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly Genetics in Medicine, 21, 2043–2058. https://doi.org/10.1038/s41436-019-0464-7
• Bachmann-Gagescu, R. (2019). A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome Journal of Pathology, 248, 393–395. https://doi.org/10.1002/path.5291
• Bachmann-Gagescu, R., & Neuhauss, S. C. F. (2019). The photoreceptor cilium and its diseases Current Opinion in Genetics & Development, 56, 22–33. https://doi.org/10.1016/j.gde.2019.05.004
• Hiatt, S. M., Thompson, M. L., Prokop, J. W., Lawlor, J. M. J., Gray, D. E., Bebin, E. M., Rinne, T., Kempers, M., Pfundt, R., van Bon, B. W., Mignot, C., Nava, C., Depienne, C., Kalsner, L., Rauch, A., Joset, P., Bachmann-Gagescu, R., Wentzensen, I. M., McWalter, K., & Cooper, G. M. (2019). Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder American Journal of Human Genetics, 104, 701–708. https://doi.org/10.1016/j.ajhg.2019.02.002
• Ojeda Naharros, I., Cristian, F. B., Zang, J., Gesemann, M., Ingham, P. W., Neuhauss, S. C. F., & Bachmann-Gagescu, R. (2018). Publisher Correction: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance Scientific Reports, 8, 12534. https://doi.org/10.1038/s41598-018-30671-8
• Ojeda Naharros, I., Cristian, F. B., Zang, J., Gesemann, M., Ingham, P. W., Neuhauss, S. C. F., & Bachmann-Gagescu, R. (2018). The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance Scientific Reports, 8, 2211. https://doi.org/10.1038/s41598-018-20489-9
• Bachmann-Gagescu, R. (2018). Génétique médicale: Conséquences du diagnostic ­génétique «next generation» Swiss Medical Forum, 18, 16–18. https://doi.org/10.4414/fms.2018.03122
• Phelps, I. G., Dempsey, J. C., Grout, M. E., Isabella, C. R., Tully, H. M., Doherty, D., & Bachmann-Gagescu, R. (2018). Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity Genetics in Medicine, 20, 223–233. https://doi.org/10.1038/gim.2017.94

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